Variant report

Variant	rs12273589
Chromosome Location	chr11:47972383-47972384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47967526..47970354-chr11:47971440..47973088,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10769307	0.85[ASN][1000 genomes]
rs10838790	0.85[ASN][1000 genomes]
rs11039473	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11039480	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12270546	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272781	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1227997	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227999	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1228000	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1228002	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1228004	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1228008	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1228018	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1228019	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1228020	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1228021	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1228022	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1228023	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290628	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294218	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12295364	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1681604	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1681627	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1681631	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1681637	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1729281	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1729294	0.93[EUR][1000 genomes]
rs1729297	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2626567	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2697810	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2930188	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930189	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930195	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2950888	0.85[ASN][1000 genomes]
rs4752883	0.82[ASN][1000 genomes]
rs4752886	0.85[ASN][1000 genomes]
rs6485797	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7104376	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7111419	0.88[ASN][1000 genomes]
rs7113640	0.85[ASN][1000 genomes]
rs7116080	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7119280	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73462871	0.88[ASN][1000 genomes]
rs73462874	0.88[ASN][1000 genomes]
rs73462875	0.88[ASN][1000 genomes]
rs7928153	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932759	0.83[ASN][1000 genomes]
rs7941441	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs900699	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv897326	chr11:47891334-48035474	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1053145	chr11:47967902-48086950	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47960000-47972400	Weak transcription	Lung	lung
2	chr11:47967400-47973200	Enhancers	Primary B cells from cord blood	blood
3	chr11:47967400-47974000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr11:47968400-47973000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:47968400-47973200	Enhancers	Primary B cells from peripheral blood	blood
6	chr11:47968800-47975200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr11:47969000-47973000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr11:47969600-47972600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr11:47969800-47972600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr11:47969800-47973200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr11:47970000-47972400	Weak transcription	Spleen	Spleen
12	chr11:47970000-47972800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr11:47970200-47972600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr11:47970200-47972600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr11:47970400-47972600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr11:47970800-47976800	Weak transcription	K562	blood
17	chr11:47970800-47989200	Weak transcription	A549	lung
18	chr11:47971200-47972400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:47971400-47972600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:47971800-47972400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:47971800-47972600	Enhancers	Primary hematopoietic stem cells	blood
22	chr11:47971800-47972600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr11:47971800-47972600	Enhancers	Fetal Thymus	thymus
24	chr11:47971800-47973200	Enhancers	GM12878-XiMat	blood
25	chr11:47972000-47972400	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr11:47972000-47972400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:47972000-47972400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:47972000-47972400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:47972000-47972400	Flanking Active TSS	Osteobl	bone
30	chr11:47972000-47972600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:47972000-47972600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:47972000-47972600	Enhancers	Thymus	Thymus
33	chr11:47972000-47973600	Enhancers	Placenta	Placenta
34	chr11:47972200-47972400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:47972200-47972400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr11:47972200-47972400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:47972200-47972400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:47972200-47972400	Enhancers	Right Ventricle	heart
39	chr11:47972200-47972600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr11:47972200-47972600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:47972200-47972600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:47972200-47972600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:47972200-47972600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr11:47972200-47972600	Flanking Active TSS	Dnd41	blood
45	chr11:47972200-47972600	Enhancers	Hela-S3	cervix
46	chr11:47972200-47972600	Enhancers	NH-A	brain
47	chr11:47972200-47973200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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